Variant report

Variant	rs551006742
Chromosome Location	chr7:56516281-56516282
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr7:56515982-56516325	K562	blood:	n/a	chr7:56516167-56516181 chr7:56516166-56516181 chr7:56516169-56516179 chr7:56516166-56516181 chr7:56516140-56516153 chr7:56516170-56516182 chr7:56516168-56516181 chr7:56516169-56516179

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56516248-56516298	PANC-1	pancreas:	n/a
2	chr7:56516243-56516293	HL-60	blood:	n/a
3	chr7:56516243-56516293	Hepatocyte	liver:	n/a
4	chr7:56516248-56516298	ECC-1	luminal epithelium:	n/a
5	chr7:56516248-56516298	GM06990	blood:	n/a
6	chr7:56516243-56516293	AG04449	skin:	fetal
7	chr7:56516243-56516293	NHBE	bronchial:	n/a
8	chr7:56516243-56516293	HPAEpiC	pulmonary alveolar:	n/a
9	chr7:56516255-56516305	NB4	blood:	n/a
10	chr7:56516255-56516305	AoSMC	blood vessel:	n/a
11	chr7:56516255-56516305	HNPCEpiC	eye:	n/a
12	chr7:56516248-56516298	HNPCEpiC	eye:	n/a
13	chr7:56516255-56516305	SAEC	small airway:	n/a
14	chr7:56516248-56516298	AG09309	skin:	n/a
15	chr7:56516243-56516293	Jurkat	blood:	n/a
16	chr7:56516255-56516305	SKMC	muscle:	n/a
17	chr7:56516255-56516305	ECC-1	luminal epithelium:	n/a
18	chr7:56516255-56516305	HIPEpiC	eye:	n/a
19	chr7:56516248-56516298	HUVEC	blood vessel:	n/a
20	chr7:56516255-56516305	T-47D	breast:	n/a
21	chr7:56516255-56516305	HRCEpiC	kidney:	n/a
22	chr7:56516255-56516305	NH-A	brain:	n/a
23	chr7:56516248-56516298	AoSMC	blood vessel:	n/a
24	chr7:56516255-56516305	MCF10A-Er-Src	breast:	n/a
25	chr7:56516243-56516293	HCT-116	colon:	n/a
26	chr7:56516255-56516305	AG04449	skin:	fetal
27	chr7:56516255-56516305	HCPEpiC	choroid plexus:	n/a
28	chr7:56516243-56516293	HRPEpiC	eye:	n/a
29	chr7:56516248-56516298	HCPEpiC	choroid plexus:	n/a
30	chr7:56516243-56516293	HEK293	kidney:	embryo
31	chr7:56516243-56516293	HepG2	liver:	n/a
32	chr7:56516248-56516298	HCM	heart:	n/a
33	chr7:56516243-56516293	U87	brain:	n/a
34	chr7:56516248-56516298	AG10803	skin:	n/a
35	chr7:56516248-56516298	Hepatocyte	liver:	n/a
36	chr7:56516255-56516305	AG09319	gingival:	n/a
37	chr7:56516243-56516293	HNPCEpiC	eye:	n/a
38	chr7:56516255-56516305	K562	blood:	n/a
39	chr7:56516255-56516305	Jurkat	blood:	n/a
40	chr7:56516255-56516305	HCT-116	colon:	n/a
41	chr7:56516243-56516293	SK-N-MC	brain:	n/a
42	chr7:56516248-56516298	NHBE	bronchial:	n/a
43	chr7:56516243-56516293	HUVEC	blood vessel:	n/a
44	chr7:56516243-56516293	AG04450	lung:	fetal
45	chr7:56516255-56516305	HEK293	kidney:	embryo
46	chr7:56516248-56516298	NH-A	brain:	n/a
47	chr7:56516243-56516293	PFSK-1	brain:	n/a
48	chr7:56516248-56516298	ovcar-3	ovarian:	n/a
49	chr7:56516243-56516293	AoSMC	blood vessel:	n/a
50	chr7:56516255-56516305	GM12878	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000237268	TF binding region
ENSG00000237268	CpG island

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv526294	chr7:56171489-56622630	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1016771	chr7:56174828-56643856	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv538862	chr7:56174828-56643856	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	esv3368661	chr7:56201127-56591279	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1033163	chr7:56307057-56677865	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv538863	chr7:56307057-56677865	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv888065	chr7:56319050-56580547	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv427783	chr7:56334626-56983646	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv1022563	chr7:56383876-57318888	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
13	nsv1016255	chr7:56453095-56835595	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv888066	chr7:56466740-56693762	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv1028678	chr7:56511649-56795206	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv538864	chr7:56511649-56795206	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv1020833	chr7:56511848-57323499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
18	nsv538865	chr7:56511848-57323499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
19	nsv8090	chr7:56511877-56772523	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv1017561	chr7:56512618-57334136	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
21	nsv981478	chr7:56514158-56527700	ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56515200-56516400	Active TSS	Ovary	ovary
2	chr7:56515400-56516400	ZNF genes & repeats	Placenta	Placenta
3	chr7:56515600-56516400	ZNF genes & repeats	Brain Anterior Caudate	brain
4	chr7:56515600-56516400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
5	chr7:56515600-56516400	ZNF genes & repeats	Gastric	stomach
6	chr7:56515600-56516400	ZNF genes & repeats	Pancreas	Pancrea
7	chr7:56515600-56516600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr7:56515600-56516600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
9	chr7:56515600-56516600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:56515600-56517600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr7:56515600-56519000	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr7:56516000-56516400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr7:56516000-56516400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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